Thalassemia, also known as Mediterranean anemia, is a group of inherited blood disorders characterized by abnormal hemoglobin production. Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body. Individuals with thalassemia have either reduced production or abnormal structure of hemoglobin, leading to a decreased ability to transport oxygen effectively.
There are several types of thalassemia, including alpha thalassemia and beta thalassemia, which are further classified based on the severity of the condition. The symptoms of thalassemia can vary depending on the type and may range from mild to severe. Common symptoms include fatigue, weakness, pale skin, jaundice, and delayed growth and development in children.
Thalassemia synonyms:
Diagnosis of thalassemia involves blood tests to measure the levels of hemoglobin and identify any abnormalities in its structure. Genetic testing may also be performed to determine the specific gene mutations responsible for the condition. Treatment options for thalassemia include blood transfusions, iron chelation therapy to remove excess iron from the body, and in severe cases, bone marrow transplantation.
It is important for individuals with thalassemia to receive regular medical care and monitoring to manage their condition effectively. Genetic counseling may also be recommended for individuals and families with a history of thalassemia to understand the risk of passing the condition to future generations.